{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397690832",
  "communityStandardTitle": [
    "NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548124[alleleid]",
        "alleleId": 548124,
        "preferredName": "NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/556587",
        "RCV": [
          "RCV000672610"
        ],
        "variationId": 556587
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3558636A>G?assembly=hg19",
        "id": "chr17:g.3558636A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3655342A>G?assembly=hg38",
        "id": "chr17:g.3655342A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555563010",
        "rs": 1555563010
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 3655342,
          "referenceAllele": "A",
          "start": 3655341
        }
      ],
      "hgvs": [
        "NC_000017.11:g.3655342A>G",
        "CM000679.2:g.3655342A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 3558636,
          "referenceAllele": "A",
          "start": 3558635
        }
      ],
      "hgvs": [
        "NC_000017.10:g.3558636A>G",
        "CM000679.1:g.3558636A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 3505385,
          "referenceAllele": "A",
          "start": 3505384
        }
      ],
      "hgvs": [
        "NC_000017.9:g.3505385A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23875,
          "referenceAllele": "A",
          "start": 23874
        }
      ],
      "hgvs": [
        "NG_012489.1:g.23875A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23875,
          "referenceAllele": "A",
          "start": 23874
        }
      ],
      "hgvs": [
        "NG_012489.2:g.23875A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "A",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.9:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.4:p.Arg151Gly",
        "hgvsWellDefined": "ENSP00000046640.4:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739992",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.451A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.451A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Arg151Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Arg151Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.8:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Arg151Gly",
        "hgvsWellDefined": "ENSP00000371294.3:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "endIntronDirection": "+",
          "endIntronOffset": 16,
          "referenceAllele": "A",
          "start": 677,
          "startIntronDirection": "+",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000488623.6:c.-293+16A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501016.1:n.-293+16A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000574776.6:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461118.2:p.Arg4Gly",
        "hgvsWellDefined": "ENSP00000461118.2:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "A",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673669.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501123.1:p.Arg4Gly",
        "hgvsWellDefined": "ENSP00000501123.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 925,
          "referenceAllele": "A",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673965.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500995.1:p.Arg151Gly",
        "hgvsWellDefined": "ENSP00000500995.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.7:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.3:p.Arg151Gly",
        "hgvsWellDefined": "ENSP00000046640.3:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.7:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Arg151Gly",
        "hgvsWellDefined": "ENSP00000371294.3:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000574218.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458912.1:p.Arg4Gly",
        "hgvsWellDefined": "ENSP00000458912.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383595"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000574776.5:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461118.1:p.Arg4Gly",
        "hgvsWellDefined": "ENSP00000461118.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "referenceAllele": "A",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000576979.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458457.1:p.Arg151Gly",
        "hgvsWellDefined": "ENSP00000458457.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347864",
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "A",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.2:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Arg151Gly",
        "hgvsWellDefined": "NP_001026851.2:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098030",
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.2:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Arg151Gly",
        "hgvsWellDefined": "NP_004928.2:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Arg151Gly",
        "hgvsWellDefined": "XP_005256542.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Arg151Gly",
        "hgvsWellDefined": "XP_006721526.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "A",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_006721527.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "referenceAllele": "A",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Arg151Gly",
        "hgvsWellDefined": "XP_011521993.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_011521994.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XR_934003.1:n.1044A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1143,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 1143,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934158.1:n.1143+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934159.1:n.433+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934160.1:n.438+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934163.1:n.1034+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "referenceAllele": "A",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.3:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Arg151Gly",
        "hgvsWellDefined": "XP_005256542.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.3:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Arg151Gly",
        "hgvsWellDefined": "XP_006721526.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "A",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.2:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_006721527.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "referenceAllele": "A",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.2:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Arg151Gly",
        "hgvsWellDefined": "XP_011521993.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.2:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_011521994.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024254.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879743.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_016879743.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "A",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024255.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879744.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_016879744.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "A",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024256.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879745.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_016879745.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "referenceAllele": "A",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024257.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879746.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_016879746.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574856"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 879,
          "referenceAllele": "A",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024258.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879747.1:p.Arg4Gly",
        "hgvsWellDefined": "XP_016879747.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574857"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934158.2:n.1160+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934159.2:n.450+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934160.2:n.455+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 1514,
          "referenceAllele": "T",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934163.2:n.1051+1514T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523002",
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "A",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374492.1:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361421.1:p.Arg151Gly",
        "hgvsWellDefined": "NP_001361421.1:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523238",
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "referenceAllele": "A",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374493.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361422.1:p.Arg4Gly",
        "hgvsWellDefined": "NP_001361422.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523474",
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "A",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374494.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361423.1:p.Arg4Gly",
        "hgvsWellDefined": "NP_001361423.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523712",
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "A",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374495.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361424.1:p.Arg4Gly",
        "hgvsWellDefined": "NP_001361424.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573073031",
      "coordinates": [
        {
          "allele": "G",
          "end": 587,
          "referenceAllele": "A",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374496.1:c.10A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361425.1:p.Arg4Gly",
        "hgvsWellDefined": "NP_001361425.1:p.Arg4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098030",
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "A",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.3:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Arg151Gly",
        "hgvsWellDefined": "NP_004928.2:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.451A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.451A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Arg151Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Arg151Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347864",
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.3:c.451A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Arg151Gly",
        "hgvsWellDefined": "NP_001026851.2:p.Arg151Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
    }
  ],
  "type": "nucleotide"
}